P-054: EVALUATION OF FIRST MICROCHIP-BASED POINT-OF-CARE DEVICE FOR DIAGNOSIS OF BETA-THALASSEMIA IN INDIA
Authors: MEHTA A., AN R., THOTA P., PRASHANT K., NAJMI S., GURKAN U., NEMADE S.
Journal: HemaSphere (2022)

Purpose: Among various Hemoglobin (Hb) disorders, approximately 1.5% of the world population carry β-thalassemia, of which 40,000 newborns are affected each year. β-Thalassemia is caused by reduced (β+) or absent (β0) synthesis of the β-globin chains of hemoglobin. Three clinical and hematological conditions are recognized, including the disease states of β-thalassemia intermedia and β-thalassemia major, and the less severe or asymptomatic β-thalassemia carrier state (β-thalassemia trait). Early screening and timely diagnosis are required in β-thalassemia patients for prevention and management of later clinical complications. High performance liquid chromatography (HPLC) is the major laboratory test available for screening of β-thalassemia carriers. In countries where β-thalassemia is most prevalent, diagnosis and screening of the condition is a challenge due to the high cost and logistical aspects of the existing laboratory diagnostic tests. Therefore, there is a need for an affordable and easy-to-use point-of-care (POC) test to facilitate decentralized hemoglobin testing in low-resource settings. Here, we present the first POC diagnostic test for β-thalassemia, Gazelle. Gazelle enables detection, accurate identification, and quantification of Hb types under ultraviolet (UV 410nm) illumination. Materials and methods: In this study, 368 subjects, in the age range of 4 – 63 years, were tested at Apple Diagnostics lab in Ghatkopar, Mumbai, India, under a local IRB-approved study protocol. Additionally, 32 blood samples were prepared to match expected untreated β-thalassemia intermediate and β-thalassemia major samples. In total, 400 tests were conducted in this study. Results: As defined by the Standards for Reporting Diagnostic Accuracy (STARD), 394 out of 400 (98.5%) tests were valid tests. Gazelle correctly identified all subjects with β-thalassemia major and β-thalassemia intermedia, as well as β-thalassemia trait. 6 normal subjects were identified as β-thalassemia trait by Gazelle. Sensitivity was 100% for all β-thalassemia tested. Specificity was 100% for disease vs. normal and disease vs. trait, and 98.3% for trait vs. normal (Table 1). Conclusion: Gazelle provides hemoglobin type identification and quantitative results of relative hemoglobin percentages for a broad range of hemoglobin variants including Hb A, Hb S, Hb F, and Hb A2, enabling accurate detection of β-thalassemia carriers. Gazelle has significant advantages over laboratory tests, including timely results (in <8 min), automatic interpretation, digital storage and printed reports. Gazelle is a versatile point-of-care system that enables affordable, accurate, decentralized hemoglobin testing in resource-limited settings.Table 1. Gazelle’s diagnostic accuracy for beta-thalassemia major, intermedia, and trait U. GURKAN declares a conflict of interest: Consultancy, Expert: Hemex Health Inc, BioChip Labs Inc Patent or product inventor: Hemex Health Inc, BioChip Labs Inc, Xatek Inc, DxNow Inc Research support/Scientific studies: Hemex Health Inc, BioChip Labs Inc, Stock shareholder: Hemex Health Inc, BioChip Labs Inc, Xatek Inc, DxNow Inc